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Pharmaceutical industry and medical professionals have been concerned by the lack of novel drugs and drug candidates in the pipeline. These authors discuss evidence to indicate that human monogenic disorders are a valuable, but so far largely neglected, source of novel drug targets.
More than 1,800 genes are known to cause hereditary disorders in humans. This review discusses the use of genetic medicines to treat monogenic hereditary disorders, and the technical, regulatory and economic challenges that genetic medicine must confront to become a reality.
Multifactorial disorders have grabbed the limelight in recent years, at the expense of research on monogenic traits. This shift in emphasis might not be fully justified, given the insight that seemingly 'simple' disorders can bring to genome function and complex disease aetiology.
How left–right asymmetries are established in vertebrate embryos has fascinated developmental biologists for decades. Recent evidence from a range of species provides insights into the genetic and epigenetic mechanisms that are involved, particularly in the early stages of generating left–right asymmetry.
Studies of susceptibility to leishmaniasis illustrate the power of mouse genetics to increase our understanding of host responses to infection. Mouse models have begun to reveal a network of genetically regulated responses, some of which overlap with those triggered by other infections.
Genetic studies of Parkinson disease have stimulated progress in understanding many aspects of this debilitating neurodegenerative disorder. A combination of mapping disease genes in humans and studying their functions in model organisms provides new hope for treatment and prevention.
The recent eruption of interest in embryonic stem cell research is fuelled by the promise and potential of this work. But current work is firmly grounded in several decades of fascinating research that are engagingly summarized here by the author.
This Focus issue stresses the need for more research on monogenic disorders and the unique opportunity they offer for developing treatments, from aiding drug target identification to a host of genetic medicines.
